journal: Journal of Pediatric Endocrinology and Metabolism

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Zeitschrift

Journal of Pediatric Endocrinology and Metabolism

Official Journal of the German Society for Pediatric and Adolescent Endocrinology and Diabetology (DGPAED)

Editor-in-Chief:

Sprache: Englisch

Erstveröffentlichung: 1. Januar 1985

Erscheinungsweise: 12 Hefte pro Jahr

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Objective
The Journal of Pediatric Endocrinology and Metabolism (JPEM) is a peer-reviewed journal that publishes cutting-edge articles on clinical investigations in pediatric endocrinology, diabetes, inherited metabolic disorders, metabolism and translational research. JPEM is an international journal devoted exclusively to endocrinology in the neonatal, pediatric and adolescent age groups. JPEM is a high-quality journal dedicated to pediatric endocrinology, diabetes and metabolic diseases in its broadest sense, including research on epidemiology, pathophysiology, multidisciplinary management and technology, filling a gap at a time of rapid expansion in the field.
JPEM is a hybrid journal published monthly in print and online. All contributions submitted for publication in JPEM are subject to single-anonymized peer review by at least two experts in the field, selected and invited by the Editor-in-Chief and a dedicated Editorial Team. JPEM publishes only English-language articles.
JPEM is the official journal of the German Society for Pediatric and Adolescent Endocrinology and Diabetology (DGPAED).

BEST PAPER AWARD
From 2025, the DGPAED and the publisher will jointly award a Best Paper Award for the best paper by a DGPAED member published in the Journal of Pediatric Endocrinology and Metabolism. The prize is endowed with 1000 euros and will be awarded at the 2nd JA-PED. The selection will be made by Prof. Clemens Kamrath, JPEM Editor-in-Chief, Prof. Annette Richter-Unruh and Dr. Sebastian Kummer, JPEM Asociate Editors. Submission deadline is October 1, 2025.
We look forward to receiving your submissions´at https://mc.manuscriptcentral.com/jpem

Topics
Pediatric Endocrinology // Pediatric Diabetes // Pediatric Obesity // Inherited Metabolic Diseases // Neonates/Neonatal Screening // Hormonal Disorders and Therapy // Adrenal Disorders // Pituitary Disorders // Thyroid Disorders // Disorders of Bone, Calcium and Vitamin D Metabolism // Growth Disorders // Endocrine Cancers // Disorders of Gonads and Puberty // Disorders of Sex Differentiation, Gender Dysphoria // Psychosocial Aspects of Chronic Conditions in Pediatric Endocrinology and Diabetology // Multidisciplinary Care for Children and Their Families

Article formats
Original Article, Review Article, Mini Review, Opinion Paper, Perspectives, Editorial, Case Report, Case Report and Review of the Literature, Short Communication, Letter to the Editor and Reply, Guidelines and Recommendations, Congress Abstracts

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Fresh frozen plasma as functional replacement therapy in early infantile ApoC-II deficiency: a molecularly confirmed case series

19. Mai 2026

Nurcan Üçüncü Ergun, Merve Aslantaş

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Objectives Familial chylomicronemia syndrome (FCS) caused by apolipoprotein C-II (ApoC-II) deficiency is a rare and potentially life-threatening disorder characterized by severe hypertriglyceridemia beginning in early infancy. This study aimed to describe the clinical, biochemical, and molecular characteristics of infants with ApoC-II deficiency and to evaluate the therapeutic and diagnostic role of fresh frozen plasma (FFP). Case presentation We report three male infants from consanguineous families presenting with extreme hypertriglyceridemia (range: 3,228–5,802 mg/dL). All patients carried the homozygous APOC2 c.55+1G>C pathogenic variant. A fat-restricted diet was initiated at diagnosis; however, the rate of triglyceride reduction was insufficient for rapid metabolic stabilization. Administration of FFP (10 mL/kg twice daily for three days) resulted in marked biochemical improvement, with up to 98.3 % reduction in triglyceride levels within 72 h. Clinical manifestations included lactescent serum, vomiting, and eruptive xanthomas, which resolved following treatment. Conclusions FFP infusion provides temporary functional ApoC-II replacement, enabling rapid metabolic stabilization while supporting the diagnosis of ApoC-II deficiency in early infancy. Early recognition and timely intervention may help prevent serious complications during the establishment of definitive long-term dietary management.
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Associations of personal solar UV exposure with gut microbiota diversity and BMI among preschool children in China

19. Mai 2026

Jiawen Liang, Dandan Ke, Manman Shao, Yuanchao Li, Gengsheng He, Yuwei Liu

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Objectives Solar ultraviolet radiation (UVR) exposure has been recognized as a modulator of metabolic health, ranging from indirect effects on physical activity and lifestyle to direct biological impact on energy metabolism. This study examines the relationship between personal UVR exposure and BMI in preschool children in China, with a focus on the mediating role of gut microbiota-mediated mechanisms. Methods A cross-sectional study was conducted on 405 preschool children from three cities in China. Personal UVR exposure was assessed using the modelling framework, and age- and sex-specific BMI z-scores were calculated based on growth reference values. Fecal samples were analyzed using 16S rRNA sequencing to characterize gut microbiota composition. Structural equation modeling (SEM) examined the relationships between personal UVR exposure, gut microbiota diversity, and BMI z-score. A mediation analysis was performed to identify key gut microbiota genera contributing to these associations. Results Higher personal UVR exposure was significantly associated with lower BMI z-score. SEM results indicated that UVR exposure was positively related to microbial diversity and inversely associated with BMI z-score. Mediation analysis further confirmed that Lactobacillus exhibited the most substantial mediating effect, followed by Lachnospira, Coprococcus, and Bifidobacterium. Conclusions Personal UVR exposure may contribute to BMI regulation in preschool children, which is partially mediated by changes in the abundance of specific gut microbiota genera, highlighting the UVR exposure’s potential as a natural and non-invasive intervention for children with overweight/obesity. Future studies should explore the long-term effects and underlying molecular mechanisms to inform public health strategies.
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Beyond A_1c: a narrative review of mental health integration in pediatric type 1 diabetes care

19. Mai 2026

Ethan Jetter, Austin Eason, Taylor Waldmann, Brent Carr

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Background Youth with type 1 diabetes (T1D) experience substantially higher rates of depression, anxiety, diabetes distress, attention-deficit/hyperactivity disorder (ADHD), and disordered eating behaviors (DEB) than peers. These conditions may impair self-management and contribute to worsened glycemic outcomes.ContentWe synthesize prevalence and consequences of common comorbidities; summarize International Society for Pediatric and Adolescent Diabetes (ISPAD) and American Diabetes Association (ADA) guidance on psychosocial assessment; and appraise integrated models: co-located behavioral health, stepped care, and telehealth integration. We map barriers (workforce, workflow, stigma, fragmented communication, digital inequities) to concrete actions.SummaryPsychological morbidity and glycemic outcomes may be connected through behavioral and neuroendocrine pathways and family dynamics. Programs embedding behavioral health in pediatric diabetes care facilitate routine psychosocial screening and are associated with improved engagement and quality of life, and in some models, improved glycemic outcomes.OutlookTo close the implementation gap, teams should standardize routine psychosocial screening, embed trained mental-health professionals, use stepped-care models matching interventions to symptom severity, track referral follow-through, and leverage hybrid telehealth. Policy levers include reimbursement for integrated visits and investment in the behavioral-health workforce. The consistent associations between psychological and glycemic outcomes in youth with T1D support integrating psychosocial care as a core component of comprehensive diabetes management.
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Maternal β-hCG and neonatal hormone profiles as predictors of anogenital distance: assessing the fetal reproductive axis

15. Mai 2026

Ipsita Mishra, Anoj Baliarsinha, Arun Choudhury

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Objectives To evaluate the association of maternal β-human chorionic gonadotropin (β-hCG), neonatal thyroid hormones including free triiodothyronine (fT3), free thyroxine (fT4), and thyroid-stimulating hormone (TSH), and neonatal serum testosterone with anogenital distance (AGD) in term male and female newborns, and to assess sex-related differences. Methods This hospital-based cross-sectional study included 133 term newborns (90 males and 43 females) delivered between 37 and 40 weeks of gestation. Maternal serum β-hCG levels were measured before delivery. Cord blood samples were analyzed for fT3, fT4, TSH, and neonatal venous blood samples for serum testosterone. AGD and neonatal anthropometric parameters were measured shortly after birth. Sex-wise comparisons and correlation analyses were performed. Results Mean AGD was significantly greater in male newborns than in females (2.62 ± 0.09 cm vs. 1.15 ± 0.05 cm; p = 0.001). Maternal β-hCG levels differed between mothers of male and female newborns (p<0.05). Neonatal serum testosterone levels were higher in males, though not statistically significant (p=0.16). AGD showed positive correlations with maternal β-hCG and neonatal serum testosterone levels. Among thyroid hormones, mean fT3 levels were significantly higher in females (p=0.0001), while fT4 and TSH were comparable. Conclusions AGD at birth shows marked sexual dimorphism and is associated with maternal β-hCG and neonatal serum testosterone measured at birth. These findings provide reference data from an Indian newborn population. Given the timing of measurements, results should be interpreted with caution, and further longitudinal studies are required to clarify developmental determinants of AGD.
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Parent-perceived stressors and stress-dosing practices during suspected adrenal crisis in children with congenital adrenal hyperplasia: a cross-sectional, parent-reported study

15. Mai 2026

Sarah K. Cubberley, Laurie A. Minns

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Objectives Adrenal crisis (AC) is a life-threatening complication in children with congenital adrenal hyperplasia (CAH). While physiological stressors are well-recognized precipitants, the contribution of psycho-emotional stressors remains poorly understood. This study evaluated the prevalence of parent-reported adrenal crises associated with psycho-emotional stressors in children with CAH and examined associations with child age, sex, and CAH phenotype. Methods This cross-sectional observational study enrolled parents of children under 18 years of age with CAH living in the United States (IRB H25-0397; n=131). Parent-perceived psycho-emotional adrenal crisis (PEAC) prevalence was assessed, and associations with child age, sex, and phenotype were evaluated. Parents also reported perceived triggers, symptoms, and management strategies for suspected PEAC events. Results A total of 115 parents representing 118 children with clinically diagnosed CAH participated. Children were predominantly female (58.5 %), had a median age of 6 years, and most had salt-wasting CAH (76.1 %). Lifetime parent-reported AC prevalence was 85.5 %, with 47.0 % reporting at least one AC in the prior year. Suspected PEAC events were reported in 24.3 % of children, and 11.3 % experienced a suspected event within the previous 12 months. Overall AC rates did not differ by sex; however, recent suspected PEAC events were more frequently reported in female children. Half of parents reported proactively increasing glucocorticoid doses during psycho-emotional stress, a practice strongly associated with prior PEAC history. Most suspected PEAC episodes were managed at home, though approximately one-third required emergency medical care. Conclusions Psycho-emotional stressors may contribute to suspected adrenal crises in children with CAH, particularly among female or older children. Further research involving both parents and clinicians is needed to validate these findings and to optimize guidance for PEAC recognition and management.
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Reliability of point-of-care glucose in neonates: revisiting hypoglycemia protocols in the NICU

15. Mai 2026

Ibrahim Hamama, Vikram Katodia, Natalie M. Landry, Seth D. Mark, Michael R. Narvey

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Objectives Hypoglycemia is a common metabolic problem in newborns, often asymptomatic but can lead to cognitive impairment and neuromotor delays. This study assesses the practicality and accuracy of whole blood capillary bedside glucose measurements using a point-of-care (POC) glucometer compared to serum glucose levels obtained via laboratory methods. The objective of this article was to evaluate the reliability of POC glucose levels in the NICU and compare them with central laboratory glucose measurements. Methods A retrospective cross-sectional comparative study was conducted on 108 newborns admitted to the NICU at the Health Science Center, Winnipeg, Manitoba, Canada, between September 2022 and August 2024. Hypoglycemic POC glucose results from the Nova Stat Strip glucose meter were compared to confirmatory central laboratory serum glucose results produced on the Roche cobas c501 analyzer. Results A significant correlation was observed between serum glucose levels and glucometer readings, with a correlation coefficient of 0.825. Regression analyses showed a slope of 1.223 (Deming) and 1.200 (Passing-Bablok), with intercepts of −0.75 and −0.70, respectively. Conclusions Accurate blood glucose measurement is critical for early detection and management of neonatal hypoglycemia. Given the reliability of current glucometers and their close correlation to serum samples, this study questions the need for confirmatory serum samples in the presence of bedside hypoglycemic results.
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Central congenital hypothyroidism caused by TSHB gene mutation: a case report

15. Mai 2026

Mariana Andrade, Ana Lemos, Catarina Mendonça, Rita Pissarra, Ana Grangeia, Ricardo Mota, Marta João Silva, Joana Tenente, Cíntia Castro-Correia

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Objectives We present a case of central congenital hypothyroidism that was diagnosed clinically in the second month of life, after a false negative neonatal screening test. Case presentation A 44-day-old infant presented to the Emergency Department with cyanosis and hypotonia. Examination revealed macroglossia, perioral cyanosis, jaundice, holosystolic murmur, and umbilical hernia. There was a history of early neonatal hospitalization due to feeding difficulties and hypoglycemia; neonatal endocrine-metabolic screening was negative for all tested diseases, including congenital hypothyroidism (whole blood TSH <6.0 mUI/L). Due to desaturation and bradycardia, the child was admitted to the Pediatric Intensive Care Unit, requiring intubation, mechanical ventilation and, later, a tracheostomy. Metabolic studies showed no abnormalities. Thyroid function tests revealed undetectable TSH and very low free T3 and free T4 levels. Whole exome sequencing revealed a likely pathogenic variant in homozygosity in the TSHB gene, associated with central congenital hypothyroidism. Levothyroxine was initiated, with rapid normalization of free T4 levels and marked clinical improvement. Conclusions Clinical signs of congenital hypothyroidism are becoming increasingly uncommon, due to early screening, diagnosis and treatment; it is still crucial to recognize them, since central congenital hypothyroidism can be missed during routine neonatal screening. This case underscores the importance of starting hormone replacement therapy as early as possible to reduce systemic and cognitive complications.
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Corrigendum to: Family and culture in type 1 diabetes transition care: a mini review

14. Mai 2026

Jennifer A. Kelleher, Megan Kozak, Hiroko Sugiwaka, Lindsay R. Druskin Grimes, Christina L. Duncan

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Are children with inborn errors of metabolism and cystic fibrosis adequately protected? Immunization status and seroepidemiological evaluation of vaccine-preventable diseases

14. Mai 2026

Gonca Kılıç Yıldırım, Meltem Dinleyici, Ömer Kılıç, Ener Çağrı Dinleyici

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Objectives Inborn errors of metabolism (IEMs) are rare genetic disorders associated with increased vulnerability to infections and risk of metabolic decompensation. Although routine immunization is recommended, data on real-world vaccination status, seroprotection rates, and vaccine safety in children with IEMs remain limited. This study aimed to evaluate immunization status, antigen-specific seroprotection rates, determinants of seronegativity, and vaccine safety in a cohort of children with IEMs. Methods This single center cross-sectional study was conducted at a tertiary Pediatric Metabolism Unit of Eskişehir Osmangazi University between January and June 2022. A total of 169 children were included. Vaccination history was obtained from immunization cards and parental report. Serological protection was assessed using commercial immunoassays and interpreted according to assay-specific cut-offs. Age eligibility and time since last vaccine dose were analyzed. Descriptive statistics were used to summarize immunization coverage and antibody levels. Group comparisons were performed using chi-square or Fisher’s exact tests for categorical variables and non-parametric tests for continuous variables. A p-value <0.05 was considered statistically significant. Results A total of 169 pediatric patients (52.1 % girls; mean age 65.8 ± 59.6 months) were assessed through medical record reviews and caregiver interviews, with serological testing for vaccine-preventable diseases conducted via standardized ELISA assays. Overall, 94 % of children were vaccinated according to the national immunization program, and no vaccine-related metabolic decompensation or serious adverse events were observed. Six percent were unvaccinated or delayed, mainly due to hospitalization, neurological conditions, pandemic-related disruptions, or parental refusal. Only 9.5 % had received non-scheduled vaccines. Seroprotection was high for tetanus (100 %) and diphtheria (91.7 %). Lower seroprotection was observed for hepatitis B (68.0 %), hepatitis A (53.3 %) and varicella (47.4 %). However, seronegativity was strongly associated with longer time since last dose and age ineligibility for routine vaccination, rather than clear evidence of disease-specific impaired vaccine response. Although numerical differences were observed across metabolic subgroups, no consistent pattern of impaired vaccine response attributable to IEM category was identified. Conclusions Children with IEMs demonstrated high overall vaccination coverage and reassuring safety profiles when immunized during metabolically stable periods. Observed immunity gaps were largely explained by programmatic factors, age eligibility, and time since vaccination. These findings support systematic vaccination review and selective serological assessment within routine metabolic follow-up while avoiding overinterpretation of seronegativity as disease-specific immune insufficiency.
Open Access
Digital biomarkers of pediatric metabolic health in children with obesity: insights from wearable-derived heart rate data

14. Mai 2026

Pietro Bosoni, Cristiana Larizza, Matteo Vandoni, Virginia Rossi, Alessandro Gatti, Vittoria Carnevale Pellino, Giordano Lanzola, Silvana Quaglini, Gianvincenzo Zuccotti, Valeria Calcaterra

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Objectives Pediatric obesity is a major public health concern associated with early development of metabolic syndrome (MetS) and autonomic imbalance. Wearable devices enable continuous, non-invasive monitoring of physiological signals under real-life conditions, but their use to investigate metabolic health in youth remains limited. We examined the association between wearable-derived heart rate (HR) measures and metabolic status in children with obesity, exploring the potential of wearable-based digital phenotyping to identify early markers of autonomic and metabolic dysregulation. Methods Fifty children and adolescents with obesity (8–16 years) were recruited. Participants wore a Fitbit Charge 2 for continuous HR monitoring. HR indices, including All-day HR, Sleeping HR, Resting HR, Inactive HR, Minimum HR, and HR dip, were computed over ≥5 valid days (i.e., with ≥20 h of wear time). MetS was classified using Gurka’s sex-specific criteria. Logistic regression models tested associations between HR indices and MetS status, with stepwise feature selection to identify the most informative predictors. Results All-day and Inactive HR were significantly higher in Not-MetS participants compared with those with MetS (p<0.05). Stepwise logistic regression identified Sleeping HR (p=0.0435) and HR dip (p=0.0332) as significant predictors of MetS. Both showed inverse associations (odds ratio <1), indicating that lower Sleeping HR and a smaller nocturnal HR dip were related to higher odds of MetS. Conclusions Fitbit-derived HR metrics, particularly Sleeping HR and HR dip, are associated with metabolic status in children with obesity. Continuous wearable monitoring can support early, personalized, and preventive strategies in pediatric cardiometabolic health through digital phenotyping of autonomic function.
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The first neonatal case of Juvenile Paget disease with homozygous deletion in the TNFRSF11B gene

12. Mai 2026

Erbu Yarci, Betul Turen, Didem Ozturk Yarci, Hatice Dilek Can Gokalp, Oznur Yilmaz Bayer, Gokalp Senol, Bayram Ali Dorum

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Objectives Juvenile Paget disease (JPD) is a very rare autosomal recessive inherited bone metabolism disorder caused by osteoprotegerin (OPG) deficiency. Patients are mostly diagnosed in infancy or early childhood. Here, we report the first JPD diagnosed in the neonatal period, depending on severe clinical and radiological findings caused by a homozygous deletion in the TNFRSF11B Gene. Case presentation A male newborn with a gestational age of 31 1/7 weeks, hospitalized for prematurity and respiratory distress, was found to have varus deformity in the proximal part of the lower extremities, and conventional radiography showed diffuse osteosclerosis, especially in the long bones. During follow-up, a rapid and progressive increase in serum alkaline phosphatase (ALP) levels was observed, and the bone-specific ALP level was found to be high. Chromosomal microarray analysis showed 251,4 kilobase homozygous deletion in the 8q24.12 region encoding the TNFRSF11B gene. Conclusions JPD should be considered in the differential diagnosis when there is bone deformity in the neonatal period, along with a marked, serial increase in alkaline phosphatase.
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Serum selenium levels in children and adolescents with Hashimoto’s thyroiditis: a cross-sectional case–control study

12. Mai 2026

Esra Kara, Zehra Aycan

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Objectives This study aimed to evaluate serum selenium concentrations in children and adolescents with Hashimoto’s thyroiditis (HT) residing in an iodine-sufficient region and to investigate their associations with clinical, biochemical, and ultrasonographic parameters. Methods In this cross-sectional case–control study, 50 patients younger than 18 years diagnosed with HT and 50 age- and sex-matched healthy controls were enrolled. HT was defined by elevated anti-thyroid peroxidase and/or anti-thyroglobulin antibodies and supported by ultrasonographic findings. Serum selenium concentrations were measured using inductively coupled plasma mass spectrometry. Thyroid function tests and autoantibodies were assessed by chemiluminescent immunoassays. Statistical analyses were performed using appropriate parametric or non-parametric tests. Results The mean serum selenium concentration was significantly lower in the HT group compared with controls (64.26 ± 14.46 μg/L vs. 70.79 ± 13.55 μg/L; p=0.005). However, mean selenium levels in both groups remained within the laboratory reference range. Within the HT group, serum selenium concentrations were not significantly associated with age, sex, TSH, free T4, thyroid autoantibody titers, ultrasonographic findings, presence of goiter, or levothyroxine dose. Conclusions Children and adolescents with HT exhibited significantly lower serum selenium concentrations compared with healthy peers. This difference reflects a relative reduction rather than overt selenium deficiency and was not associated with markers of disease activity. Larger prospective studies are warranted to clarify the clinical relevance of these findings.
Open Access
Xq27.3–q28 duplication involving the FMR1 gene presenting with familial X-linked hypogonadism, gynecomastia, short stature, intellectual disability, and obesity syndrome: a case report and review of the literature

12. Mai 2026

Mehmet Ali Oktay, Elif Tuğçe Tunca Küçükali, Gülsüm Kayhan, Esra Döğer, Mahmut Orhun Çamurdan, Aysun Bideci

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Objectives Duplications involving the Fragile X Mental Retardation 1 ( FMR1 ) gene at Xq27.3–q28 underlie a rare but clinically distinctive genetic syndrome. This report aims to describe the clinical features of a pediatric male patient presenting with morbid obesity, hypogonadism, gynecomastia, short stature, and neurodevelopmental disorders, and to compare the findings with previously reported cases. Case presentation A 17-year-old male presented to our clinic for obesity. He was followed by a child psychiatrist with diagnoses of autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), and moderate intellectual disability. Physical examination showed morbid obesity, bilateral gynecomastia, and reduced testicular volume. Endocrine evaluation demonstrated hypergonadotropic hypogonadism. Genetic testing identified a 5.5 Mb interstitial duplication at Xq27.3–q28 involving FMR1 , inherited from his mother. Conclusions This patient represents the youngest living individual with a familial Xq27.3–q28 duplication reported to date. The syndrome resulting from FMR1 gene overdosage is characterized by combined neurodevelopmental and endocrine/metabolic abnormalities. FMR1 duplications should be considered in the differential diagnosis of pediatric patients presenting with similar clinical features.
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Genetic evaluation of a group of patients with transient congenital hypothyroidism by targeted exome sequencing

12. Mai 2026

Özge Köprülü, Sezer Acar, Ceren Yılmaz Uzman, İbrahim Mert Erbaş, Özlem Nalbantoğlu, Filiz Hazan, Semra Gürsoy, Hüseyin Anıl Korkmaz, Behzat Özkan

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Objectives Transient congenital hypothyroidism (TCH) is characterized by congenital hypothyroidism (CH) which spontaneously resolves in the first years of life. While most cases are sporadic, several studies from worldwide showed variants in DUOX2 , DUOXA2, TSHR genes in the etiology of TCH. The aim of our study is to evaluate the genetic etiology of TCH. Methods A total of 54 patients from 50 families with TCH were included the study. The age at diagnosis, age at time of drug discontinuation, gender, consanguinity, the presence of additional examination findings, venous fT4 and TSH levels at the time of diagnosis, at time of drug discontinuation and at the last visit, the follow-up data and genetic characteristics were obtained from records. Results A total of 54 patients from 50 families [59.3 % male (n=32) and 40.7 % female (n=22)] with TCH were included in the study. Pathogenic variants were detected in 15 out of 54 patients. 10 different DUOX2 variants (c.1060C>T, c.1547G>A, c.2597T>G, c.3314T>C, c.3382C>A, c.3509A>C, c.3790A>G, c.4445C>T, c.28del, c.533G>T) were identified in 11 patients (2 homozygous, 3 compound heterozygous, and 6 heterozygous). Conclusions Our findings suggest that DUOX2 variants are the main genetic cause of TCH. We reported novel variants in the DUOX2 and TSHR genes that expand their mutational spectrum. These findings support the need for incorporating molecular analysis into the diagnostic evaluation of TCH, not only to improve our knowledge of its genetic underly, but also to provide valuable insights for long-term follow-up, family counseling, and personalized management strategies.
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A novel mutation in glycogen storage disease type XI presenting with neonatal cholestasis and infection-triggered hepatic flares

7. Mai 2026

Melda Fatma İdrisoğlu, Nihal Kazar Hakgör, Biray Ertürk, Nafiye Emel Çakar

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Objectives A rare autosomal recessive disorder known as Fanconi–Bickel syndrome (FBS) is caused by variants in the SLC2A2 gene. This gene is responsible for encoding the glucose transporter 2 (GLUT2) protein. FBS is characterised by hepatomegaly, proximal renal tubular dysfunction, glucosuria, rickets and growth retardation. Here, we present a case of an SLC2A2 gene variant with an unusual clinical presentation involving extreme hepatic transaminase elevations during infectious episodes, a feature not commonly associated with FBS. Case presentation A male infant presented at 12 days of age with severe cholestasis and hepatomegaly. During follow-up, hypophosphatemic rickets and proximal renal tubular dysfunction emerged. Genetic analysis revealed a novel homozygous frameshift variant in the SLC2A2 gene (c.482dup; p.Gly162ArgfsTer17). During the clinical course, the most severe episodes were observed during infections, accompanied by elevations in liver enzymes. Management required glucose infusion and supportive therapy. Conclusions This article describes an SLC2A2 gene variant that had not been identified previously and shows that patients carrying this variant may be at risk of excessive liver involvement during infections. Therefore, it is emphasized that such patients should be monitored more closely and treated promptly during infections.
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Automatic bone age assessment for adult height prediction in children with congenital adrenal hyperplasia

5. Mai 2026

Kürşat Çetin, Ebru Barsal Çetiner, Yasemin Funda Bahar, Ali Tırtar, Mesut Parlak, Hale Tuhan

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Objectives This study aimed to evaluate the clinical accuracy of automated BoneXpert (BX) vs. clinician-based Greulich-Pyle (GP) bone age (BA) assessments by comparing their respective predicted adult heights (PAH) with near-final height (NFH) in patients with congenital adrenal hyperplasia (CAH). Methods Forty-seven patients with classic salt-wasting CAH diagnosed in the neonatal period who had reached NFH were included. Left hand-wrist radiographs obtained during the prepubertal period (6–9 years) were evaluated manually by two clinicians using the GP atlas and by the BX-GP method. PAH was calculated for both sexes using the Bayley-Pinneau (BP) method based on clinician- and BX-derived BA. PAH standard deviation scores (SDS) were compared with NFH-SDS and target height (TH)-SDS. Agreement was assessed using Bland-Altman analysis. Results Thirty patients (63.8 %) were female. Mean ages at bone age assessment and NFH were 7.3 and 16.1 years, respectively. Mean prepubertal height-SDS was 0.0 in girls and −0.25 in boys, while NFH-SDS was −0.79 and −1.14, respectively. Mean bone age according to clinician-GP was 7.80 years in girls and 8.16 in boys, and 7.69 and 8.14 years according to BX-GP. Clinician-based PAH-SDS was −1.0 in girls and −1.18 in boys, whereas BX-based PAH-SDS was −0.86 and −1.17, respectively. BX-based PAH was closer to NFH in girls (p<0.001), with no significant difference in boys. In both sexes, PAH-SDS and NFH-SDS were significantly lower than TH-SDS (p<0.001). Conclusions PAH calculations using the BP method based on BX-derived GP bone age readings more accurately predicted NFH in patients with CAH.
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Cardiac involvement across mucopolysaccharidosis subtypes: insights from a longitudinal single-center study

4. Mai 2026

Dilek Borakay, Mushkinaz Karimova, Bilge Noyan, Figen Akalin, Huriye Nursel Elcioglu

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Objectives This study aimed to evaluate the pattern, extent, and progression of left- and right-sided cardiac involvement in patients with mucopolysaccharidosis followed in a single tertiary center. Methods 45 patients (24 males, 21 females) with enzymatically confirmed MPS (Types I, II, III, IV, and VI) followed between 2000 and 2018 were evaluated. Demographic data, consanguinity, clinical characteristics, electrocardiographic (ECG) and echocardiographic findings, and treatment data, including enzyme replacement therapy (ERT), were collected from medical records. Cardiac pathologies were characterized by echocardiography and chest radiography. Results The mean age at diagnosis was 6.64 ± 5.07 years. A high rate of consanguinity was observed: 73 % of parents had consanguineous marriages, including 40 % first-degree and 22.22 % second-degree. The most frequent cardiac findings were mitral insufficiency (53.3 %), and aortic insufficiency (35.6 %). ECG revealed sinus rhythm in all patients, with no conduction abnormalities. Mitral insufficiency was significantly more frequent in patients with pectus carinatum (100 vs. 40 % in those without pectus carinatum; p=0.023). Similarly, aortic insufficiency was significantly more frequent in patients with kyphoscoliosis (63.64 vs. 23.81 %; p=0.027). Conclusions Cardiac involvement is frequent and clinically significant in MPS. The left-sided cardiac pathology did not deteriorate during follow-up, whereas progression was observed in right-sided cardiac involvement. Regular, systematic cardiac evaluation is essential in all MPS subtypes. The findings also underscore the importance of genetic counseling in populations with high consanguinity to improve early diagnosis and guide long-term management strategies.
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Clinical evidence, practical contradictions, and monitoring of rhGH-assisted height enhancement in children with CAH

4. Mai 2026

Ying Zhao, Jialin Mu, Hui Zou

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Due to the condition itself and long-term glucocorticoid medication, children with congenital adrenal hyperplasia (CAH) frequently experience secondary impairment of adult height. Recombinant human growth hormone (rhGH) has been tried to improve growth outcomes either by itself or in conjunction with gonadotropin-releasing hormone analogs; however, there is currently insufficient evidence to support its safety and effectiveness. Six clinical trials in this area are thoroughly reviewed in this article, which highlights the fact that the majority of the evidence currently available comes from small-sample, nonblinded designs. Although rhGH can improve projected or ultimate adult height in the near term, long-term metabolic and tumor concerns are still understood. The ambiguity of treatment indications, the significant financial burden, and the uncertainty surrounding long-term safety are the three main practical inconsistencies in the therapeutic application of rhGH that are examined in this paper. A monitoring index framework including growth and development, endocrine metabolism, and systemic safety is suggested based on this information as well as prior research and clinical experience. This article concludes by emphasizing the need for future large-scale prospective studies and patient registration systems to elucidate the risk–benefit ratio of rhGH in various CAH populations and to pay attention to the potential growth-improving effects of novel therapies represented by CRF1 receptor antagonists. The purpose of this article is to give doctors evidence-based, contradiction-aware, and safety-focused decision-making references for controlling the height of CAH children with rhGH.
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Age and sexual maturation at Spermarche in boys with Laron syndrome

28. April 2026

Zvi Laron, Avivah Silbergeld

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Objectives To determine the age at Spermarche in boys with Laron syndrome (LS), a model of genetic IGF-I deficiency. Methods Eight boys with LS and 70 healthy boys with familial short stature followed since early childhood reported the age at their first ejaculation (Spermarche) during examination of the pubertal stage. Results Spermarche in untreated boys with LS occurred at a mean chronological age of 19.1 ± 2.1 years compared to 14.3 ± 0.4 years in the healthy boys (p=0.002), but their bone ages were similar: 14.8 ± 1.3 vs. 13.5 ± 0.5 y (p=NS). The testicular volume at Spermarche in the untreated boys with LS was: 5.7 ± 1.3 mL compared to 10.0 ± 4.0 mL in the healthy boys (p<0.001). Conclusions Determination of bone age is a practical indicator of sexual maturation including the appearance of Spermarche.
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Psychosocial adaptation of parents of children with type 1 diabetes: a cross-sectional study

28. April 2026

İlayda Şenol Öztürk, Fatih Gürbüz, Ebru Uğraş

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Objectives Type 1 diabetes mellitus (T1D) is a chronic condition that requires continuous management and places a substantial psychosocial burden on families, particularly on parents responsible for daily care. This study aimed to evaluate the psychosocial adaptation of parents of children with T1D and to investigate the relationship between parental psychosocial outcomes and sociodemographic as well as clinical factors. Methods This analytical cross-sectional study was conducted between April and June 2025 at the Pediatric Endocrinology Outpatient Clinic of Ankara Bilkent City Hospital, Türkiye. A total of 328 parents of children aged 0–18 years with T1D were included. Data were collected using a sociodemographic questionnaire, the Parent Diabetes Distress Scale (PDDS), and the Diabetes Family Impact Scale (DFIS). Children’s most recent HbA 1c levels were obtained from medical records. Statistical analyses were performed using IBM SPSS Statistics version 26.0. Results Higher diabetes-related distress and greater family impact were observed among female parents, single parents, and those with lower education and income levels (p<0.05). A weak positive correlation was found between the duration of the child’s T1D and perceived financial burden (r=0.21, p<0.05). No significant association was detected between HbA 1c levels and parental psychosocial adaptation. PDDS and DFIS total scores showed a moderate positive correlation (r=0.43, p<0.001). Conclusions Parents of children with T1D experience significant psychosocial challenges influenced mainly by sociodemographic factors rather than glycemic control. Integrating psychosocial screening and family-centered support into pediatric diabetes care and primary health services may improve family well-being.
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Presumptive ovarian hyperthecosis in an adolescent girl with sustained remission after oral contraceptive therapy: a 23-year follow-up case report

28. April 2026

Graeme R. Frank

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Objectives To report the first documented case of spontaneous resolution of presumptive ovarian hyperthecosis in an adolescent and to highlight the potential for conservative medical management in this age group. Case presentation A 14-year-old girl presented with 14 months of secondary amenorrhea, voice deepening, and clitoromegaly. Laboratory evaluation revealed markedly elevated testosterone (498 ng/dL) with normal DHEAS (185 μg/dL), localizing androgen production to the ovary. After exclusion of androgen-secreting tumors and nonclassic congenital adrenal hyperplasia through imaging and ACTH stimulation testing, she was diagnosed with presumptive ovarian hyperthecosis. Treatment with combined oral contraceptives (COCs) resulted in normalization of testosterone to 22 ng/dL over 10 months. Discontinuation of COCs led to recurrence of severe hyperandrogenism (testosterone 571 ng/dL), which again normalized with reinitiation of therapy. After 4 years of COC treatment, therapy was discontinued at age 18. Remarkably, androgens remained normal off therapy at 3 months, menses resumed and became regular by 6 months, and she has remained asymptomatic with normal ovarian function for 23 years of follow-up (to age 37 years). Her most recent testosterone level at age 37 is 38 ng/dL. Conclusions This case represents the first documented spontaneous resolution of ovarian hyperthecosis and suggests that adolescent-onset disease may have a different natural history than postmenopausal ovarian hyperthecosis. Combined oral contraceptives provide effective first-line therapy for adolescent ovarian hyperthecosis. Long-term follow-up with periodic trials off medical therapy is warranted to assess for spontaneous resolution, supporting conservative management and fertility preservation rather than immediate surgical intervention in this age group.
Open Access
Clinical characteristics and risk factors of patients with cystic fibrosis-related diabetes and pre-diabetes: cohort of cystic fibrosis registry of Türkiye

27. April 2026

Mehmet Mustafa Özaslan, Gökçen Kartal Öztürk, Figen Gülen, Ezgi Demirdöğen, Nazan Çobanoğlu, Merve Nur Tekin, Ayşen Bingöl, Abdurrahman Erdem Başaran, Velat Şen, Edip Ünal, Sibel Doğru, Beste Özsezen, Mehmet Köse, Ali Ersoy, Mehmet Kılıç, Hasan Yüksel, Azer Kılıç Başkan, Ayşe Ayzıt Kılınç Sakallı, Erkan Çakır, Mina Hızal, Hülya Anıl, Tuğba Şişmanlar Eyüboğlu, Handan Kekeç, Ayşe Tana Aslan, Meltem Yıldız Kayaoğlu, Emine Altay Tanyer, Nagehan Emiralioğlu, Ebru Yalçın, Sevgi Pekcan, Suat Savaş, Bahar Ece Tokdemir, Derya Ufuk Altıntaş, Mahir Serbes, Ali Özdemir, Oğuz Karcıoğlu, Burak Kağan Elçi, Yakup Canıtez, Uğur Özçelik, Deniz Doğru Ersöz

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Objectives Cystic fibrosis-related diabetes (CFRD) is the most common comorbidity in patients with cystic fibrosis (CF). This study aimed to determine the prevalence and risk factors of CFRD using data from the CF Registry of Türkiye (CFRT). Methods All patients with CF who underwent diabetes screening in 2022 or earlier were included in the study. The clinical and demographic characteristics of patients with CFRD, pre-diabetes (impaired glucose tolerance, impaired fasting glucose, indeterminate glucose tolerance), and those with normal screening results (NSR) were compared. Results Of the 1,702 patients registered in the data system in 2022, 916 patients from 21 centers who underwent diabetes screening were included in the study. CFRD was diagnosed in 102 patients (11.2 %), there were 56 patients (6.1 %) with pre-diabetes, and NSR were found in 757 patients (82.7 %). The youngest patient diagnosed with diabetes was 6 years old. In patients with CFRD, the median age of patients was found to be higher (p<0.001), body mass index (BMI) was found to be lower (p 0.017); chronic Pseudomonas aeruginosa (P. aeruginosa) colonization (p<0.001), severe mutations (60.8 %, p<0.001), and pancreatic insufficiency (56.1 %, p<0.001) were more frequent; median FEV1% and FVC% values were significantly lower (p<0.001 and p<0.002, respectively) compared to non-diabetic patients. Conclusions CFRD is associated with impaired pulmonary function, poor nutritional status, and increased chronic bacterial colonization of the airways. Advanced age, decreased respiratory function, severe genotype, and pancreatic insufficiency are risk factors for CFRD.
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Predicting abdominal obesity in children and adolescents via machine learning: a longitudinal cohort study

27. April 2026

Xiaoyan Ding, Xiao Fang, Jing Bai, Rui Liu, Can Ma

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Objectives This study aimed to construct and verify machine learning (ML) models to predict long-term abdominal obesity (AO) risk in children and adolescents. Methods We trained and externally validated ML models to predict pediatric AO 4–5 years later using a publicly available longitudinal cohort. The body roundness index (BRI) was used as the diagnostic criterion for AO. The training/internal-validation cohort comprised 635 youths (2011→2015); an independent 2006→2011 cohort (n=456) provided external validation. After screening 25 routine variables and multiple imputation, four ML algorithms were evaluated by area under the receiver operating characteristic curve (AUC), sensitivity, specificity and F1-score across all three datasets. Results Among 635 children and adolescents in the raw-training set followed for four years, 164 (25.83 %) developed AO. Univariable analysis identified 12 significant baseline predictors (p<0.1); multivariable logistic regression (LR) retained five independent factors: body mass index (BMI), height, carbohydrate intake, reading/writing activity and urban residence. Four machine-learning algorithms were trained and validated; LR demonstrated the most stable performance across training (AUC=0.705), internal validation (AUC=0.742) and external validation (AUC=0.667) datasets. Conclusions The LR model stands out as a potential tool in predicting long-term AO risk in children and adolescents.
Open Access
Puberty promoting low dose testosterone treatment improved wellbeing and emotional state in boys with self-limited delayed puberty

24. April 2026

Martin Österbrand, Hans Fors, Ensio Norjavaara, John Eric Chaplin

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Objectives To evaluate changes in health-related quality of life in boys aged 14–16 years with delayed or slowly progressing puberty before and after low-dose testosterone treatment. Delayed puberty can cause short stature, emotional distress, and social challenges. Testosterone therapy promotes growth and masculinization, but its impact on quality of life remains poorly understood. Few studies have assessed psychosocial outcomes using validated instruments. Methods Twenty-seven boys enrolled in the Pubertal Replacement in Boys Study and were randomized to testosterone enanthate (75 mg/month for 6 months; n=12) (n=12) or testosterone undecanoate (n=12) (250 mg every 3 months; n=15). Standardized self-report questionnaires assessed generic quality of life (primary outcome), stature-specific quality of life, depressive symptoms, and enjoyment of physical activity. Assessments were conducted at baseline, 6 months, and 12 months. Results Twenty-six boys completed the study. Both regimens induced pubertal progression and a mean growth of 9.3 cm 12 months after start of replacement treatment. Significant improvements were observed in generic quality of life and depressive symptoms, with early gains sustained through 12 months. No changes were detected in stature-specific quality of life or enjoyment of physical activity. No statistical differences were found between treatment groups at 6 or 12 months. Exploratory analyses suggested that baseline testosterone serum levels were modestly associated with changes in social functioning, whereas later serum levels showed no such relationship. Conclusions Low-dose testosterone therapy improves generic quality of life and mood in boys with self-limited delayed puberty, likely reflecting successful pubertal progression. These findings highlight the importance of psychosocial outcomes as indicators of treatment success, beyond growth acceleration, and support structured follow-up to address the emotional needs of adolescents with delayed puberty.
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Selective neuroanatomical alterations in children with growth hormone deficiency: a volumetric MRI analysis using automated segmentation

23. April 2026

Safa Özyılmaz, Leyla Gizem Bolaç Özyılmaz, Deniz Çeliker, Heves Kırmızıbekmez, Sevinç Taşar

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Objectives To quantitatively evaluate global and regional brain volumes in children with biochemically confirmed growth hormone deficiency (GHD) using standardized volumetric MRI. Methods This retrospective case–control study included 64 children with isolated GHD (43 boys, 21 girls; mean age, 11.4 ± 3.2 years) and 64 age- and sex-matched healthy controls. High-resolution 3D T1-weighted MRI scans were processed using the volBrain automated segmentation pipeline. Global, cortical, and subcortical volumes were normalized to intracranial cavity volume (ICV). Group differences were analyzed with age-, sex-, and ICV-adjusted models, corrected for multiple comparisons (FDR<0.05). Results Children with GHD exhibited significantly smaller gray matter (750.6 ± 92.3 vs. 789.0 ± 88.5 cm 3 ; q=0.002) and total brain (1,204.3 ± 124.9 vs. 1,259.2 ± 118.6 cm 3 ; q=0.003) volumes compared with controls, while white matter volume was preserved. Regionally, hippocampal (q=0.02), thalamic (q=0.03), and caudate (q=0.04) volumes were smaller in GHD. ICV-normalized models showed reduced gray matter and limbic shares, with relatively higher thalamic and white matter proportions. Differences were more pronounced in prepubertal subjects and partially attenuated during puberty. Conclusions Pediatric GHD is associated with selective reductions in gray matter–dominant and limbic–striatal regions, with relative preservation of white matter. Quantitative volumetric MRI provides a reproducible biomarker framework for assessing GH-related neurodevelopmental alterations.
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Comment on “Exploratory real-world experience with glucagon-like peptide 1 receptor agonists vs. metformin in youth with new-onset type 2 diabetes: a single-center retrospective study”

21. April 2026

Shyam Sundar Sah, Abhishek Kumbhalwar

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Open Access
Response to comment on “Exploratory real-world experience with GLP-1 receptor agonists vs. metformin in youth with new-onset type 2 diabetes: a single-center retrospective study”

21. April 2026

Troy Zeier, Lily C. Chao

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Report on the 2nd Conference of the German Society for Paediatric and Adolescent Endocrinology and Diabetology (DGPAED) in Leipzig/Halle, Saale 2025

14. April 2026

Thomas Michael Kapellen, Alexandra Keller, Susann Weihrauch-Blueher

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Effect of androgens on retinal microvasculature in prepubertal girls with isolated premature pubarche

14. April 2026

Gamze Karataş, Derya Çepni Çakır, Aslı Kırmacı Kabakcı, Mehmet Egemen Karataş, Diğdem Bezen, Dilan Yıldız, Akın Çakır

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Objectives To evaluate the effect of androgens on retinal microvasculature in prepubertal girls with isolated premature pubarche (PP) with optical coherence tomography (OCT) and OCT angiography (OCTA). Methods Eighty-six prepubertal, non-obese girls with isolated PP with normal birth weight and 86 age-matched control girls were evaluated. Retinal microvascular structures in the macular and optic disc regions were examined using OCT and OCTA. Data from subjects with isolated PP were compared with data from healthy controls. Correlations between dehydroepiandrosterone sulfate (DHEA-S), androstenedione (AS), testosterone, 17-hydroxyprogesterone (17-OHP) levels, bone age, pubertal stage as well as OCT and OCTA parameters were evaluated. Results The inferior retinal nerve fiber layer (RNFL) thickness in the isolated PP group was significantly higher than the control group (p=0.007). A statistically significant increase in the vessel density (VD) was observed in temporal quadrant of the superficial capillary plexus (SCP) and inferior quadrant of the deep capillary plexus (DCP) in the isolated PP group compared with the control group (p<0.05). There were significant positive correlations between DHEAS, AS, testosterone levels and RNFL, macula-disk regions’s OCTA parameters (p<0.05). Conclusions In the isolated PP patients, thickening of RNFL and increased VD in the macula and optic disc region were recognized under the effect of androgens compared to the control group. In these patients, early microvascular changes can be detected noninvasively by means of OCT and OCTA. These findings suggest a potential link between androgen exposure and retinal microvascular alterations; however, further studies are needed to explore their clinical implications.
Open Access
Evaluation of male reproductive function after aromatase inhibitor treatment during adolescence: case series with literature review

14. April 2026

Chengjun Dai, Jingchao Ding, Junrong Zhang, Jianfang Zhu, Yanlan Fang, Chunlin Wang

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Objectives Aromatase inhibitors (AIs) are widely used in clinical practice, including for the treatment of adolescents with short stature. However, their potential impact on the long-term reproductive function of male adolescents remains unclear. This exploratory study aimed to investigate this relationship. Methods We identified male patients with short stature who had completed AI therapy between 2015 and 2022 at the First Affiliated Hospital of Zhejiang University School of Medicine. A follow-up study was conducted in 2023 to assess semen parameters and retrospectively collect data on sex hormone levels and complications during the treatment period. Results Ten patients met the inclusion criteria and consented to participate. Of these, nine provided both semen and blood samples, while one provided only a blood sample. The median treatment duration was 1.93 years (range: 1.0–3.5 years), and the median age at treatment initiation was 12.7 years (range: 11–16 years). The median sperm concentration was 78.99 million/mL (range: 16.93–223.88 million/mL). The median acrosome integrity was 75.71 % (range: 30.9–93.4 %), and the median DNA fragmentation index (DFI) was 15.39 % (range: 8.62–25.72 %). Sex hormone levels for all patients were within normal ranges at follow-up, and the majority exhibited normal semen analysis results. Conclusions In this case series study, the administration of aromatase inhibitors during adolescence was not associated with adverse effects on reproductive function parameters in early adulthood. These preliminary findings do not raise concerns regarding long-term reproductive safety. But larger, prospective studies are warranted for confirmation.
Open Access
A novel multimorbidity: co-occurrence of neonatal diabetes mellitus and leukocyte adhesion deficiency type 1 in two siblings

13. April 2026

Ilkyaz Turktan, Zehra Sule Haskologlu, Tugba Kontbay Cetin, Esin Figen Dogu, Elif Ozsu, Kamile Aydan Ikinciogulları, Zeynep Sıklar

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Objectives The coexistence of multiple genetic disorders in a single individual is more frequent in populations with high consanguinity rates. When a single diagnosis does not fully explain the clinical phenotype, the presence of additional genetic conditions should be considered. This approach is essential for accurate genetic counseling and optimal long-term management. Here, we aimed to present two siblings diagnosed with both neonatal diabetes mellitus (NDM) and leukocyte adhesion deficiency type 1 (LAD-1), a combination not previously reported. Case presentation We report two sisters born to consanguineous parents, both diagnosed with permanent neonatal diabetes mellitus and LAD-1. Genetic analysis revealed a homozygous c.-331C>G mutation in the INS promoter region and a homozygous c.388T>C mutation in the ITGB2 gene in both patients.The index case presented with hyperglycemia on the 14th postnatal day and was diagnosed with permanent NDM. She also had additional congenital anomalies, including meningomyelocele and developmental hip dislocation. Due to recurrent infections and decreased CD18 expression on leukocytes, she was subsequently diagnosed with LAD-1.The second sibling developed hyperglycemia on the second postnatal day and was diagnosed with permanent NDM. She also showed delayed umbilical cord separation, leukocytosis, and absent CD18 expression, leading to the diagnosis of LAD-1. Conclusions The coexistence of two distinct rare genetic disorders in the same individual is uncommon, and its occurrence in siblings is exceptionally rare. To our knowledge, the coexistence of LAD-1 and NDM has not been previously reported. These cases emphasize the importance of considering multiple genetic diagnoses in patients with atypical or complex clinical findings, especially in consanguineous populations. Early recognition is critical for appropriate clinical management and genetic counseling.
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Endocrine and metabolic features of PTEN hamartoma tumor syndrome in childhood: a pediatric case series

13. April 2026

Nazlı Sultan Özsoy, Ahmet Baştürk, Derya Altay, Leyla Kara, Ülkü Gül Şiraz, Nihal Hatipoğlu

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Objectives Phosphatase and tensin homolog ( PTEN ) Hamartoma Tumor Syndrome (PHTS) is caused by germline inactivating mutations in the PTEN gene and is phenotypically variable, often presenting diagnostic challenges and systemic complications during childhood. Case presentation This case series presents four pediatric patients with confirmed PTEN mutations. The clinical features included juvenile polyposis, hypoglycemia, growth hormone deficiency, juvenile papillomatosis, thyroid nodules, cerebral cavernoma, and insulin resistance. Conclusions This report highlights the heterogeneous pediatric phenotype of PHTS and draws attention to the non-tumoral manifestations of PTEN mutations, including abnormalities in glucose metabolism, growth axis, and neurodevelopment. Early diagnosis and multidisciplinary follow-up are essential to prevent potential complications.
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The clinical picture of symptomatic Rathke cleft cysts in children

13. April 2026

Ayse Nurcan Cebeci, Michaela Marx, Regina Trollmann, Michael Buchfelder, Helmuth G. Dörr, Joachim Woelfle

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A rare coexistence: tyrosinemia type III and Wolff–Parkinson–White syndrome

7. April 2026

Emel Yılmaz-Gümüş, Emine Genç, Damla Kocaman, Berna Şaylan-Çevik, Hamza Polat, Esra Arslan-Ateş, Gözde Yazkan-Akgül, Sümeyye Sarıbaş-Akmehmet, Sebile Kılavuz, Burcu Öztürk-Hişmi

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Objectives Tyrosinemia type III is an extremely rare autosomal recessive disorder of tyrosine metabolism caused by mutations in the HPD gene, which encodes 4-hydroxyphenylpyruvate dioxygenase (HPPD). Wolff–Parkinson–White (WPW) syndrome is a congenital cardiac conduction disorder characterized by the presence of an accessory atrioventricular pathway. While each condition is rare in isolation, their coexistence has not been previously reported. Case presentation We present a unique case of a 6-year-old boy with known WPW syndrome who was admitted with ketotic hypoglycemia after prolonged fasting and omission of propranolol doses. Metabolic work-up revealed persistently elevated plasma tyrosine levels. Genetic testing confirmed tyrosinemia type III due to a novel homozygous HPD variant [c.559A>G (p.Asn187Asp)]. The persistence of the WPW pattern despite decreased plasma tyrosine levels suggests that there is no direct causal relationship. He was also diagnosed with attention-deficit/hyperactivity disorder, specific learning disorder, and borderline intellectual functioning. Conclusions This case highlights the importance of metabolic evaluation in pediatric patients presenting with unexplained hypoglycemia, particularly in the presence of pre-existing cardiac disorders.
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A case of Alström syndrome with growth hormone deficiency and dyslipidemia: a novel homozygous frameshift variant of ALMS1 c.5763del

7. April 2026

Takeshi Goda, Hisakazu Nakajima, Yasuhiro Kawabe, Kitaro Kosaka, Toshiyuki Itoi, Yoko Kawai, Satoru Sugimoto, Tomoko Iehara

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Objectives Alström syndrome (AS, OMIM #203800) is a rare autosomal recessive disorder caused by biallelic pathogenic variants in ALMS1 , characterized by obesity, cardiomyopathy, retinal dystrophy, sensorineural hearing loss, and progressive hepatic and renal involvement. We report a pediatric case of AS complicated by growth hormone deficiency (GHD), focusing on the clinical course and potential metabolic effects of growth hormone (GH) replacement therapy. Case presentation A 13-year-old girl with AS presented with severe dyslipidemia, including hypertriglyceridemia (727 mg/dL), elevated total cholesterol (251 mg/dL), and low high-density lipoprotein cholesterol (23 mg/dL), together with dilated cardiomyopathy. She was diagnosed with GHD at 3 years of age, with a height of −3.6 SD. GH replacement therapy led to sustained improvement in linear growth, reaching −1.9 SD, and was associated with long-term maintenance of lipid parameters within the normal range. Whole-exome sequencing identified a previously unreported homozygous frameshift variant in ALMS1 (NM_001378454.1:c.5763del; p.(Phe1921Leufs*18)). Conclusions This case suggests that GH replacement therapy may contribute to improved lipid metabolism in patients with AS complicated by GHD. In addition, it expands the mutational spectrum of ALMS1 and highlights the potential metabolic benefits of early endocrine intervention in AS.
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46,XY differences of sex development in pontocerebellar hypoplasia type 7 (PCH7): two case reports and systematic review

19. März 2026

Shaila Sanjay Pachapure, Akshay Kalavant B., Santosh B. Kurbet, Vijaya Sarathi

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Objectives We report two cases of 46,XY siblings with pontocerebellar hypoplasia type 7 (PCH7) and conduct a systematic literature review for genetically confirmed PCH7 cases, focusing on phenotypic characteristics, particularly gonadal parameters, and associated genotypic data. Case presentation Two 46,XY siblings diagnosed with PCH7 were reviewed. Both exhibited hypoplastic male external genitalia, absent uterus, and cryptorchid testes, confirmed through histological assessments showing dysgenesis. A systematic literature search revealed an additional 26 cases of 46,XY PCH7, with neurological involvement noted in all cases except one. The external genitalia were described as abnormal (17/23); however, few of these were hypoplastic male type on pictorial review. Nonlocalized testes (5/5) and absent uterus (4/7) on ultrasonography, elevated FSH (7/7), and low testosterone (3/3) were observed. Besides a novel variant (p.Ile133Thr) in Indian siblings, a total of 25 variants in TOE1 were identified with no specific genotype–phenotype correlation. Conclusions Testicular development was defective in all PCH7 patients but was variable, with the predominant phenotypic manifestation being testicular regression syndrome/partial gonadal dysgenesis with Müllerian duct regression (TRS/PGD-MDR).
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New insights into Oliver–McFarlane syndrome: adrenocortical hypofunction and variable expressivity in a Chinese sibling pair

19. März 2026

Caiqi Du, Tingting Yu, Sheng Liu, Hao Fu, Aoyu Yang, Haotian Zhang, Yan Liang, Xiaoping Luo

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Objectives Oliver-McFarlane syndrome (OMS) is an extremely rare autosomal recessive disorder primarily characterized by the triad of trichomegaly, congenital hypopituitarism, and chorioretinal degeneration. This study aims to report the clinical and genetic characteristics of the first identified Chinese sibling pair with OMS and to expand the known phenotypic spectrum by documenting a novel clinical feature. Case presentation We report two Chinese siblings with OMS harboring identical compound heterozygous PNPLA6 variants: c.2990C>T (p.Ser997Leu) and c.3367G>A (p.Gly1123Arg). Both presented with growth hormone deficiency (GHD), short stature, retinitis pigmentosa, and characteristic hair anomalies. Notably, the elder brother exhibited intellectual disability and secondary adrenocortical insufficiency – a feature not previously documented in OMS. In contrast, the younger sister had normal adrenal function and higher cognitive levels. Both patients showed a significant positive growth response to recombinant human growth hormone (rhGH) therapy. Conclusions This study expands the phenotypic spectrum of PNPLA6 -associated OMS to include adrenocortical insufficiency and highlights significant intrafamilial variability.
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LRP5-related primary osteoporosis: phenotypic spectrum and treatment response to zoledronic acid

16. März 2026

Chamila Balagamage, Proteek Sen, Nicola Crabtree, Denise Williams, Suma Uday

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Objectives Lipoprotein receptor–related protein-5 ( LRP5 )-related disorders are characterized by variably reduced vision and juvenile osteoporosis due to loss-of-function mutations in the low-density LRP5 gene. Compelling evidence on effectiveness of bisphosphonate treatment in these disorders remains limited. We aimed to describe the phenotypic spectrum and clinical, densitometric, and fracture outcomes following zoledronate therapy in children with LRP 5-related disorders. Case presentation Five patients (P1–P5), referred at a median age of 9 years for recurrent low-impact fractures with confirmed LRP5 mutations, were included. P1–P3 were siblings with a homozygous c.1259 G>Cp.(Gly420Ala), variant of likely pathogenic. P4 carried compound heterozygous mutations for three sequence variants, including novel pathogenic variants c.2449 C>T p.(Arg817Cys), and c.362A>Gp.(Lys121Arg), and P5 had a heterozygous c.4502C>Tp.(Pro1501Leu) variant, also identified in the mother, a variant of uncertain significance (VUS). Four patients (P2–P5) received zoledronate for a median duration of 2 years (range 1.5–11 years). Post-treatment, P2, P3, and P5 showed improvements in lumbar spine (LS) Bone Mineral Apparent Density (BMAD) Z-scores (+1.0, +0.7, and +2.7 respectively), remaining fracture-free. P4 exhibited an increase in LS BMAD (+0.3) and vertebral remodeling. Conclusions LRP 5-related disorders should be considered in patients with recurrent fractures and visual involvement. Zoledronate appears effective in improving bone density, reducing fracture frequency, and promoting vertebral remodeling, although further studies are required to determine optimal treatment duration.
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GATA4 gene variants in 46,XY differences of sex development: report of four cases and literature review

16. März 2026

Maria Mansó Borràs, Cristina Pellicer Viudes, Carmen De Mingo Alemany, Sara León Cariñena, Teresa Jaijo Sanchis, Francisca Moreno Macián

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Objectives 46,XY differences of sex development (DSD) comprise a heterogeneous group of congenital conditions affecting chromosomal, gonadal or anatomical sex differentiation. GATA4 is essential for cardiac and gonadal development, although its role in DSD is not fully understood. We report four 46,XY DSD cases with GATA4 variants from our center and performed a literature review. Case presentation Case 1 presented with ambiguous genitalia, persistent Müllerian structures, and complex congenital heart disease; a GATA4 variant (p.Cys239Arg) was identified, and gonadectomy revealed atrophic testes. Case 2 had penoscrotal hypospadias and a ventricular septal defect, carrying a synonymous GATA4 variant (p.Cys275=) and showing normal hormonal evaluation and pubertal development. Case 3 presented with perineal hypospadias and a GATA4 variant (p.Val305Ile), along with a maternally inherited RET mutation; his twin brother, carrying the same variants, had no DSD. Both exhibited spontaneous puberty. Case 4 presented with isolated hypospadias and a GATA4 variant (p.Arg261GLn) without cardiac anomalies. Conclusions GATA4 should be included in genetic panels for 46,XY DSD. Our work expand the clinical and molecular spectrum of GATA 4 -associated 46,XY DSD and our review support the relevance of zinc finger domain variants in gonadal development. Phenotypic variability among carriers supports variable expressivity and incomplete penetrance.
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A rare case of severe short stature diagnosed after late-onset hypocalcemia: Kenny–Caffey syndrome type 2

16. März 2026

Gülşen Özer, İbrahim Mert Erbaş, Durdugül Ayyıldız Emecen, Akçahan Akalın, Tarık Kırkgöz, Özge Köprülü, Özlem Nalbantoğlu, Filiz Hazan, Behzat Özkan

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Objectives Kenny–Caffey syndrome type 2 (KCS2) is a very rare genetic disorder characterized by growth retardation and hypoparathyroidism, due to autosomal dominantly inherited pathogenic variants in the FAM111A gene. In this report, we presented a pediatric patient diagnosed as KCS2, with severe short stature and late-onset hypocalcemia. Case presentation A 7-year-old male patient was referred to our clinic for growth retardation. His body weight, height, and body mass index were 13.1 kg [(−4.9) standard deviation (SD) score], 94.8 cm (−5.4 SD score), and 14.6 kg/m 2 (−0.8 SD score), respectively. He had dysmorphic features including a triangular face, frontal bossing, low-set ears, and a bulbous nose. His height velocity was 3.97 cm/year (−1.1 SD score), and serum insulin-like growth factor-1 level was low. The peak growth hormone (GH) response during the GH stimulation tests was 8.5 ng/mL. Pituitary magnetic resonance imaging showed a partially empty sella and GH treatment was initiated. At the end of the first year of treatment, routine laboratory tests revealed hypocalcemia, hyperphosphatemia, and inappropriately low parathyroid hormone levels. His skeletal survey demonstrated cortical thickening and medullary stenosis of the long bones. Based on these findings, KCS2 was considered in the differential diagnosis, and genetic testing revealed a heterozygous pathogenic variant (c.1706G>A) in FAM111A . Conclusions KCS2 should be considered in patients with severe growth retardation and hypoparathyroidism, particularly when cortical thickening and medullary narrowing of long bones are observed. Responses to the GH treatment may vary among those individuals, and hypocalcemia may occur in the form of transient episodes.
Open Access
Pituitary dysfunction in childhood after [¹⁷⁷Lu]Lu-DOTATATE therapy

6. März 2026

Karen van Wessel, Bart de Keizer, Miranda P. Dierselhuis, Max M. van Noesel, Hanneke M. van Santen

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Objectives Treatment for neuroblastoma with chemotherapy and [ 131 I]MIBG can induce endocrine adverse effects, including thyroid disorders, gonadal insufficiency or short stature. Neuroblastoma can also be targeted at the somatostatin receptor, using [ 177 Lu]Lu-DOTATATE peptide receptor radionuclide therapy. Thus far no endocrine effects have been reported after [ 177 Lu]Lu-DOTATATE treatment in children. Case presentation We report a first case of pituitary dysfunction, reflected as growth hormone deficiency and central hypothyroidism, following treatment with [ 177 Lu]Lu-DOTATATE for refractory neuroblastoma. Conclusions We hypothesize that the GH and TSH deficiency in this case are caused by pituitary damage through binding of [ 177 Lu]Lu-DOTATATE to the somatostatin receptors in the pituitary gland. If [ 177 Lu]Lu-DOTATATE in the future becomes a more upfront treatment we strongly underline screening on pituitary dysfunction after exposure to [ 177 Lu]Lu-DOTATATE in childhood.
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Challenges of pediatric ectopic ACTH syndrome from sacrococcygeal teratoma

26. Februar 2026

Ruochen Che, Jianfeng Zhou, Chunlei Zhou, Jingnan Gao, Guoqiang Shao, Tao Li, Yuan Han

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Objectives Ectopic ACTH syndrome (EAS) is a rare cause of Cushing’s syndrome, especially in children, and has been only exceptionally linked to sacrococcygeal teratomas (SCTs). We report a pediatric case of SCT-associated EAS and review the literature to highlight diagnostic challenges and management strategies. Case presentation A 13-year-old girl presented with hypertension, hypokalemia, hyperglycemia, and rapid weight gain. Biochemical testing confirmed ACTH-dependent hypercortisolism, while pituitary MRI was negative. Pelvic CT revealed a 5.1 cm presacral mass. PET/CT based on ^18F-FDG showed only mild glucose uptake (SUVmax 3.26) in the mass, whereas ^68Ga-DOTA-NOC PET/CT demonstrated intense somatostatin receptor (SSTR) expression (SUVmax 55.86). Laparoscopic resection identified a mature teratoma containing a well-differentiated neuroendocrine tumor (NET G1) positive for ACTH and SSTR2. Postoperatively, cortisol/ACTH levels normalized, and metabolic abnormalities resolved with 9-month follow-up showing no recurrence. Conclusions This report describes the first adolescent case of EAS due to a neuroendocrine tumor within a sacrococcygeal teratoma. Complementary PET/CT on FDG metabolism and SSTR expression is critical for localizing occult neuroendocrine components. Complete tumor resection and multidisciplinary collaboration are key to favorable outcomes, expanding the spectrum of pediatric EAS and providing valuable insight into its evaluation and management.
Open Access
Childhood thiamine-responsive megaloblastic anemia and diabetes: a case series highlighting early diagnosis and management

3. Februar 2026

Uğur Cem Yılmaz, Arpita Bhriguvanshi, Deniz Özalp Kızılay, Samim Özen, Şükran Darcan, Yusuf Can Doğan, Esra Işık, Nihal Karadaş, Jamie R. Wood, Ingrid Libman, Damla Gökşen

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Objectives Thiamine-responsive megaloblastic anemia (TRMA) is a rare but clinically impactful disorder caused by pathogenic SLC19A2 variants. Despite its characteristic triad – megaloblastic anemia, non-autoimmune early-onset diabetes, and sensorineural hearing loss – TRMA is frequently unrecognized at initial presentation, delaying life-altering treatment. This report highlights how early thiamine therapy can rapidly reverse dysglycemia and hematologic abnormalities, and how diagnostic delay may permit irreversible neurological injury. Case presentation Case 1, a six-month-old male, presented with diabetic ketoacidosis and profound anemia. High-dose thiamine produced a striking metabolic response: near-immediate glycemic stabilization, complete insulin discontinuation within days, and normalization of hematologic parameters. Despite optimal early treatment, progressive hearing loss necessitated cochlear implantation. Case 2, a three-year-old male, exhibited recurrent anemia, difficult-to-control diabetes despite insulin therapy, and established sensorineural hearing impairment, following a stroke at age two. Thiamine initiation after delayed genetic confirmation improved dysglycemia and corrected anemia, yet neurological sequelae remained fixed. Conclusions These cases underscore TRMA as a high-impact, reversible cause of early-onset diabetes – but only when recognized promptly. Thiamine can induce complete metabolic remission and insulin independence, offering a therapeutic opportunity unmatched in most pediatric diabetes etiologies. However, once neurological damage develops, metabolic correction alone is insufficient. TRMA should be urgently considered in any child with recurrent macro/megaloblastic anemia and atypical or antibody-negative diabetes, especially with hearing concerns. Early genetic testing and immediate thiamine therapy are essential to prevent avoidable, lifelong morbidity. In children with unexplained megaloblastic anemia and atypical diabetes, immediate TRMA screening may prevent irreversible complications.
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Successful desensitization to alglucosidase alfa in a very young infant with Pompe disease

20. Januar 2026

Funda Aytekin Güvenir, Gökhan Yörüsün, Zeynep Şengül Emeksiz, Oya Kıreker Köylü, Aynur Küçükçongar Yavaş, Emine Dibek Mısırlıoğlu

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Objectives Enzyme replacement therapy (ERT) with alglucosidase alfa markedly improves outcomes in infantile-onset Pompe disease, yet hypersensitivity reactions may interrupt treatment and require desensitization. We report a very young infant in whom ERT was successfully maintained after allergic reactions through a structured desensitization protocol. Case presentation A 3-month-old male with infantile-onset Pompe disease developed generalized urticaria during the seventh alglucosidase alfa infusion despite premedication and infusion rate adjustment. Skin testing was not feasible due to age. After obtaining informed consent, desensitization was initiated in a specialized setting. Initial three- and four-bag protocols were unsuccessful because of recurrent urticaria. A final five-bag, sixteen-dose protocol using enzyme concentrations from 0.0005 to 1 mg/mL enabled the full therapeutic dose to be administered safely. The same regimen was subsequently applied in following infusions without recurrence of symptoms. Conclusions This case demonstrates that desensitization can be effectively implemented even in very young infants with Pompe disease who experience hypersensitivity during ERT. A carefully designed protocol and close clinical monitoring allow continuation of this life-saving therapy when no alternative treatment exists.
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Dyggve–Melchior–Clausen syndrome in three siblings: a unique case series with dual diagnosis of Down syndrome and Hirschsprung disease

20. Januar 2026

Meryem Halis, Mehmet Kocabey, Fatma Ceren Sarıoğlu, Suzan Süncak, Merve Bilen, Nur Arslan, Semra Gürsoy, Handan Güleryüz Uçar, Ayfer Ülgenalp, Özlem Giray Bozkaya

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Objectives Dyggve–Melchior–Clausen (DMC) syndrome is a rare autosomal recessive skeletal dysplasia caused by mutations in the DYM gene. It is characterized by progressive spondyloepimetaphyseal dysplasia, short stature, coarse facial features, microcephaly and intellectual disability. While it clinically resembles Morquio syndrome (mucopolysaccharidosis type IV, MPS IV), DMC is distinguished by cognitive impairment, absence of corneal clouding, normal urinary glycosaminoglycans and distinctive radiological features. Case presentation We reported three siblings with DMC syndrome. Two 4-year-old monozygotic male twins, born to consanguineous parents, presented with growth retardation and developmental delay. Radiographs showed generalized platyspondyly, rhizomelic shortening and metaphyseal dysplasia, while biochemical tests excluded MPS IV. Molecular tests revealed a homozygous deletion in exon 16 of the DYM gene. The third sibling, with Down syndrome, also exhibited similar skeletal features and carried the same DYM deletion. Conclusions The clinical and radiological features of our patients were consistent with DMC syndrome, with partial overlap with MPS IV. This case series represents the first reported coexistence of DMC and Down syndrome. In addition, we identified a novel homozygous deletion in exon 16 of the DYM gene, which broadens the known mutational spectrum. This finding also highlights the importance of comprehensive genetic testing when standard sequencing results are inconclusive. The presence of neurological findings, such as seizures, further supports the need for combined genetic and neurological evaluation in these patients.
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Severe metabolic acidosis in succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: case report of a novel pathogenic OXCT1 variant (L131_E132dup) and its pathophysiological basis

13. Januar 2026

Natsuho Adachi, Hideki Matsumoto, Mai Mori, Hideo Sasai, Hiroyuki Tanaka

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Objectives Ketoacidosis from idiopathic ketotic hypoglycemia (IKH) rarely causes severe acidemia or requires emergency management. We report a rare inborn error of metabolism presenting with severe acidemia secondary to ketoacidosis. Case presentation A 13-month-old boy developed severe respiratory distress during his first febrile episode. Laboratory tests revealed severe anion gap metabolic acidosis (pH 6.866, HCO 3 − 5.6 mmol/L, anion gap 23.4 mEq/L) with markedly elevated D-3-hydroxybutyrate (3HB 6,969 μmol/L). Acidosis improved following blood purification therapy, and he was discharged without sequelae. Metabolic testing suggested a ketone body utilization disorder. He was diagnosed with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency as a compound heterozygote for a previously reported T435N variant and a novel L131_E132dup variant of OXCT1, with low SCOT activity in lymphocytes. Transient expression analysis of the L131_E132dup cDNA demonstrated no residual enzyme activity. Conclusions We compared data from patients with IKH requiring hospitalization and those with SCOT deficiency. Although 3HB levels did not differ significantly, patients with SCOT deficiency had significantly lower pH and HCO 3 − levels. In ketone body utilization disorders, once ketogenesis is upregulated, ketone bodies rapidly accumulate before renal compensation, leading to severe acidemia. In cases of disproportionate acidemia during ketoacidosis, ketone body utilization disorders should be considered.
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The association between hydration status and body composition in healthy children and adolescents

4. April 2023

Priscilla Clayton, María Angélica Trak-Fellermeier, Alison Macchi, Rodolfo Galván, Zoran Bursac, Fatma Huffman-Ercanli, Juan Liuzzi, Cristina Palacios

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Objectives Children 10–20 years old in the US are currently obese, showing suboptimal hydration as 60% fail to meet the US Dietary Reference Intakes for water. Studies have shown a significant inverse association between hydration status and body composition in children, although most failed to use the Dual-X-Ray Absorptiometry Scan (DEXA), the gold standard for body composition. Limited studies used an objective marker to measure hydration, such as urine specific gravity (USG) from a 24-h urine collection. Therefore, this study aimed to examine the association between hydration status (measured from USG in a 24-h urine sample and assessed from three 24-h dietary recalls) and body fat % and lean mass (assessed from a DEXA scan) in children (10–13 years, n=34) and adolescents (18–20 years, n=34). Methods Body composition was measured using DEXA, total water intake (mL/d) was assessed from three 24-h dietary recalls and analyzed using the Nutrition Data System for Research (NDSR). Hydration status was objectively measured using USG via 24-h urine collection. Results Overall body fat % was 31.7 ± 7.31, total water intake was 1746 ± 762.0 mL/d, and USG score was 1.020 ± 0.011 uG. Linear regressions showed significance between total water intake and lean mass (B=12.2, p<0.05). Logistic regressions showed no significant association between body composition and USG and total water intake. Conclusions Findings showed total water intake was significantly associated with lean mass. Future research should be conducted to explore other objective markers of hydration and with a larger sample.
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Corrigendum to: Primary pigmented nodular adrenocortical disease (PPNAD): single centre experience

13. September 2019

Saba Samad Memon, Kunal Thakkar, Virendra Patil, Swati Jadhav, Anurag R. Lila, Gwendolyn Fernandes, Tushar R. Bandgar, Nalini S. Shah

Artikelnummer: 20198888

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Journal Impact Factor	1	2024, Journal Citation Reports (Clarivate, 2025)
5-year Journal Impact Factor	1.4	2024, Journal Citation Reports (Clarivate, 2025)
Journal Citation Indicator	0.44	2024, Journal Citation Reports (Clarivate, 2025)
CiteScore	2.6	2024, Scopus (Elsevier B.V., 2025)
SCImago Journal Rank	0.445	2024, SJR (Scimago Lab, 2025; Data Source: Scopus)
Source Normalized Impact per Paper	0.58	2024, CWTS Journal Indicators (CWTS B.V., 2025; Data Source: Scopus)

Journal of Pediatric Endocrinology and Metabolism

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